A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1948e59



Internal ID22763168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79145164..79146762hg38UCSC Ensembl
chr18:76905164..76906762hg19UCSC Ensembl
chr18:75006152..75007750hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3380245, esv3384311
SamplesNA19239, NA19240
Known GenesATP9B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1948e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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